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Koolen-de Vries Syndrome Foundation
Registrace 28. 08. 2016
Koolen-de Vries Syndrome Foundation Mission Statement
To educate, increase awareness and promote research for the support and enrichment of individuals living with Koolen-de Vries Syndrome and their families.
Koolen-de Vries Syndrome was first identified in 2006 and thus is a relatively ``new`` syndrome. Current published literature describing the syndrome is based on small numbers of individuals. Research into the syndrome is still on-going and there is great need for parents/caregivers to get involved.
To educate, increase awareness and promote research for the support and enrichment of individuals living with Koolen-de Vries Syndrome and their families.
Koolen-de Vries Syndrome was first identified in 2006 and thus is a relatively ``new`` syndrome. Current published literature describing the syndrome is based on small numbers of individuals. Research into the syndrome is still on-going and there is great need for parents/caregivers to get involved.
KdVS Chat with CSO: Chat with Dr. Yann Herault
The next in our series "Research Chat with KdVSF CSO." This month's topic is a chat with Dr. Yann Herault. Dr. Herault is a Professor at the Institut de génétique et de biologie moléculaire et cellulaire. Dr. Herault established the first mouse models of KdVS - creating a model for both the microdeletion and Kansl1 variant patients.
This webinar occurred 5/30/2024
www.kdvsfoundation.org
This webinar occurred 5/30/2024
www.kdvsfoundation.org
zhlédnutí: 19
Video
Research Chat with KdVSF CSO: Research Associate James Schmidt of Dr. Helen Willsey’s Lab UCSF
zhlédnutí 132Před měsícem
Originally recorded on April 25, 2024, KdVSF President Ashley Point spoke with research associate James Schmidt of Dr. Helen Willsey's Lab at the University of San Francisco. www.kdvsfoundation.org @kdvsfoundation
Research Chat with KdVSF CSO - “KdVS Foundation Patient Priority Survey Results”
zhlédnutí 48Před 2 měsíci
Chief Scientific Officer Dr. Anna Pfalzer chats about the results of the KdVS Foundation Patient Priority Survey. This webinar occurred on March 28, 2024. www.kdvsfoundation.org
What is Koolen-de Vries Syndrome?
zhlédnutí 1,9KPřed 3 měsíci
What is Koolen-de Vries Syndrome? Learn more about this rare genetic syndrome through this video created by medical education company, Osmosis. “Osmosis is a medical education company that produces concise, high-quality videos on health and medicine topics. Osmosis videos feature 2D animation and detailed images to make complex topics approachable for any audience.”
KdVS Chat with CSO: Dr. Lacey Carmen Chetcuti and the Stanford Study
zhlédnutí 99Před 3 měsíci
Join Chief Scientific Officer Dr. Anna Pfalzer to hear about the Stanford Study. This webinar occurred on February 29, 2024. www.kdvsfoundation.org
KdVS Chat with CSO: CHAMPION Study
zhlédnutí 82Před 4 měsíci
Join Chief Scientific Officer Dr. Anna Pfalzer to hear about the UCLA CHAMPION Study to learn more about this research opportunity. This webinar occurred on January 25, 2024. www.kdvsfoundation.org
KdVS Chat with CSO: Chat with Dr. Blanchard of the University of Maryland Brain and Tissue Bank
zhlédnutí 96Před 6 měsíci
The next in our series "Research Chat with KdVSF CSO." This month's topic is "Chat About the University of Maryland Brain and Tissue Bank." Guest Speaker: Dr. Thomas Blanchard of University of Maryland This webinar occurred Thursday, November 30, 2023 at 10am ET. www.kdvsfoundation.org
Research Chat with KdVSF CSO
zhlédnutí 99Před 7 měsíci
This is the first in our newest series "Research Chat with KdVSF CSO." This month's topic is "The Importance of Community Participation in Developing Treatments for KdVS." This webinar occurred Thursday, October 26, 2023 at 10am ET. www.kdvsfoundation.org
2023 Koolen-de Vries Syndrome Patient Advocacy Summit - Ticket Options Walk Through
zhlédnutí 154Před rokem
After registering for the 2023 Koolen-de Vries Syndrome Foundation's Patient Advocacy Summit you'll still need to select and pay for your tickets and options. Watch this video for a walk through of the ticket options.
2023 KdVSF Patient Advocacy Summit Registration Walk Through
zhlédnutí 137Před rokem
Interested in registering for the 2023 Koolen-de Vries Syndrome Foundation's Patient Advocacy Summit? This video will walk you through the registration process.
When You're Connected, You're Not Alone
zhlédnutí 2KPřed rokem
Visit www.kdvsfoundation.org to learn more about how you can connect with other KdVS families. Remember, you're not alone.
Help Hope Live Virtual Meeting
zhlédnutí 105Před rokem
The KdVS Foundation is proud to partner with Help Hope Live, a trusted medical fundraising nonprofit that supports the rare disease community across the country. Don’t take on out-of-pocket medical expenses alone: trust the nonprofit fundraising experts, and access benefits from one-on-one fundraising help to tax-deductible donations for donors to fundraising that won’t jeopardize your benefits.
A Conversation with Dr. Brooke Latour
zhlédnutí 448Před rokem
On July 27, 2022, KdVS Foundation Fellow Dr. Brooke Latour shared updates on her ongoing exploration of how mutations that lead to KdVS give rise to altered brain development by creating cerebral organoids, or "brain-in-a dish."
RARE X Introduction Webinar SD 480p
zhlédnutí 148Před rokem
In this webinar, members of the Koolen-de Vries Syndrome Foundation and Megan O’Boyle of RARE-X share an introduction to the RARE-X platform. The KdVSF is very excited about the launch of the KdVS Data Collection Program (DCP). When families contribute data, researchers, doctors and our community can understand more about Koolen-de Vries Syndrome and develop better treatments. This webinar was ...
A Conversation with Bea Moise
zhlédnutí 186Před 2 lety
On June 14, 2022 at 6pm ET, cognitive specialist Bea Moise spoke with the KdVS Foundation's Kaci Fisher about siblings of special needs individuals. Beatrice (Bea) Moise, M.S., BCCS, is a Board-Certified Cognitive Specialist, Parenting Coach, Author and National Speaker. She created A Child Like Mine to educate parents of children with unique atypical brains that have both behavior and learning...
It Takes a Village: IEPs 5th-12th Grades
zhlédnutí 114Před 2 lety
It Takes a Village: IEPs 5th-12th Grades
It Takes a Village: IEPs Pre-K Through 4th Grade
zhlédnutí 198Před 2 lety
It Takes a Village: IEPs Pre-K Through 4th Grade
Conversation with Speech Pathologist Angela Morgan
zhlédnutí 403Před 2 lety
Conversation with Speech Pathologist Angela Morgan
How the KdVS Foundation impacts individuals with Koolen-deVries Syndrome
zhlédnutí 1,2KPřed 2 lety
How the KdVS Foundation impacts individuals with Koolen-deVries Syndrome
Koolen-de Vries Syndrome - Our very favorite syndrome!
zhlédnutí 25KPřed 4 lety
Koolen-de Vries Syndrome - Our very favorite syndrome!
2019 Kool Kampaign for Koolen-de Vries Syndrome Research
zhlédnutí 1,4KPřed 4 lety
2019 Kool Kampaign for Koolen-de Vries Syndrome Research
I’d like to learn more about PVNH & seizures Is there any road map through this pls? My daughter is 35 with kdvs Was seizure free from age 11 up until 2019 where they’ve returned with a vengeance She has PVNH & I’m told that’s the cause of her epilepsy however if that’s the case why were we not seeing seizures like we are now in that gap from ages 11 - 30 Can we reroute or bring about reformation of the neural pathways through PVNH ?
I have a 7yrs old daughter who has KDVS ,how do i contact with the family please.
Hello. I have 7yrs old daughter have KDVS and i will like to connect with the family how do i contact you guys?
I’m have child with KDVS syndrome I would love to attend this meeting. Where is this happening? Is it happened already or it is something you are planning please let me know. I would love to connect to the family I live in Minnesota. I didn’t see people with KDVS family yet. .
If your district does not start until Kindergarten, what do you do with your 3 and 4 year old.
C-SPAN
Good evening .My has same diagnosed how do I connect to you guys? I will like to connect families with kdvs please check my comments Thank you.
Is any treatment for kdvs.. pls tell
Hi I’m a mother have 5 years child with kdv syndrome I love connecting with you connecting with a family . I live in Minnesota please let me know if you know any resource hoping to find good schools .
Hello everyone. I am so happy to see you all. And beautiful faces kids with KDV families I am one of you today joining you I have a beautiful daughter has Kdv .
❤️❤️😉
Excellent presentation Dr. Bruce Roseman
If they're funny, happy, kind, athletic, amazing, outgoing and silly then why the hell is it a syndrome??
Syndromes dont have to be all bad There are clearly difficulties with it but it doesnt have to be depressing
Ow ow I’m so happy to you all My daughter same syndrome and i notice all the kids have same faces.they are all beautiful very lovely ❤❤
I love you ❤
Favorite syndrome???
❤❤❤❤
Everyone needs salvation here are the words of salvation please forgive me jesus im a sinner come into my heart and save me from my sin I no that you are the savior and I no that you died for me on calvary and I no that God raise you from the dead and you are alive and I thankyou for your salvation in Jesus holy name amen and its important to always ask for forgiveness every night
how is this relevant
Thank you! We are new to this beautiful family. Today 20th of May 2022 our 3yrs is diagnosed with Koolen-de vries syndrome.
“Favorite syndrome” kinda stupid
My youngest son, who is 24, has Dup15q syndrome. Not the same but some of the same challenges. He also was born with microcephaly and mild CP. they automatically labeled him as mentally challenged but at age 3 proved the doctors wrong with a non-verbal IQ score of 142. Keep challenging your children and their future is unlimited. God bless you all.
That's why it's so annoying when awareness-raising materials or helpful information on multisystem genetic conditions and getting the right diagnosis are aimed solely at parents of children, and maybe if you're lucky will address parents of adults too, but don't even make a nod towards the hundreds of millions of struggling, abandoned, undersupported and mostly undiagnosed independent or semi-independent adults who actually HAVE whichever multisystem genetic medical problem is supposed to be the subject. It starts to feel like we're not seen as the people whose problems matter, our parents are, and the problem they're being helped with is the burden of raising us. So once they're not legally required to look after us anymore, we might as well not exist. This isn't one of the conditions I'm suspected to have, but I know there are people with this condition who are not intellectually disabled at all, and that many who are ID would still be very capable and willing of speaking for themselves about their own experiences instead of just being spoken about. That just seems to be how society at large views any disabled person that they assume is intellectually disabled. It's not fair on either those who ARE intellectually disabled, who are being spoken about as if they are the problem instead being the person with the problem that needs focus, and it's not fair on those who are not intellectually disabled, because we are by far the least likely to get diagnosed simply because however much pain we're in, however many medical symptoms are still going unexplained, however many new unusual conditions we get diagnosed with as we get older, however many jobs we lose, however much we find independent living a stressful nightmare we're expected to succeed at because we 'seem high-functioning', as long as we're not intellectually disabled then nobody ever offers a genetic test to help get to the bottom of it all. We have to just stumble upon the fact that we have many typical signs of a multisystem genetic disease by ourselves, as I did. Absolutely no attempt is made as far as I can tell to reach to undiagnosed adults and tell US about the clues that you have a single genetic explanation for multiple seemingly unrelated diagnoses.
Tem alguém q participa de algum grupo de kdvs q possa me adicionar preciso compartilhar minha vida como mãe de uma criança com essa síndrome
Como faço pra participar desses grupos de pessoas com essa síndrome
Misericórdia porque só tem vídeos em inglês
It is time not to hide behind our finger and do what is required by our being as human beings.All the children of the world are also our children.
Ich möchte soviel Informationen verstehen, doch leider kann ich kein Englisch. Mein Sohn (24) hat seit 1Jahr die Diagnose erhalten. Doch leider finde ich keine deutschen Informationen .
Absolutely fascinating to observe how and where the KDSF donation dollars are being transformed into actual research. I cannot be anymore excited for the future results and continued research.
My daughter Joy, who will be 36 this year, was finally diagnosed with Koolen de Varies Syndrome. Would really like to talk to someone who has an adult disabled child with this condition. I can be reached at Marilyn55510@comcast.net Thank you Marilyn Bach-Nunez
Por favor traducir al español nesecito información gracias
I would like to know what to expect from a person that has 17q21.31 microdeletion because I was told my daughter has it and that was it. Given no information about it
Are you a part of our Facebook group? Most of the info any parent has is from online research & other parents
I don't have Facebook but thanks any way
Aww okay! We have a group of over 1000 parents and care takers!
Thanks for your help
Como faço pra fazer parte do grupo o Facebook
Thank you for sharing!
Gvvv nn
Great initiative. Congratulations!
A very special video showing how KDV kids light up all our lives! To all parents with a kid with KDV: When did your child started talking? Do you have any hints to us how we support the language development? Thank you all for your help :-)
nice video
En Español por favor vivo en Colombia y no encuentro mucha información en español Gracias
De que zona sos?
Tenho dois filhos com esta síndrome somos brasileiros moramos em São José dos Pinhais Paraná somos únicos aqui por enquanto
Por favor descobrir essa síndrome da minha filha agora me ajudar com experiência
@@leideanaabreu7282 Olá me passa seu contato temos um grupo de pais de criança com a síndrome posso te colocar no grupo trocamos experiências ajuda muito
@@joicychrys4692 estou me sentindo desesperada sem entender nada.
Beautiful video really showing how Kool these Kids are! Brought tears to my eyes, but tears of joy that this syndrome is getting the spotlight.